A change in the DNA is referred to as a prothrombin mutation – also known as a factor II mutation. Those affected have a blood clotting disorder, which means that the blood clots much more quickly. For patients, this means that they are much more susceptible to thrombosis (blood clots) than people with normal blood clotting. The prothrombin mutation is classified as a genetic defect.
What is a prothrombin mutation?
If a prothrombin mutation is detected, there are changes in the genome that affect the coagulation factor in the blood. Prothrombin is one of the proteins and is an important factor in blood clotting. This ensures that blood coagulates naturally in bleeding wounds and thus protects people from bleeding to death.
If there is a prothrombin mutation, more prothrombin is found in the patient’s blood. During bleeding, prothrombin is converted into thrombin, which in turn converts fibrinogen (another component of blood) into fibrin. The fibrin is an insoluble blood component that sticks the platelets (thrombocytes) together, making the blood clot stronger and larger. See gradphysics for Lupus Vulgaris in English.
Factor II – short for factor II mutation – is just one of many clotting factors in human DNA. There are a total of 13 different coagulation factors [from I (very strong coagulation) to XIII (no coagulation)], with the prothrombin mutation being one of the so-called “blood thickeners”.
Causes
The cause of the prothrombin mutation is a genetic defect. There is a so-called point mutation in the prothrombin gene, which is located at position 20210. The gene consists of several thousand points, of which exactly one point is genetically modified.
The prothrombin mutation can be inherited, but can also occur accidentally as a result of genetic damage. People with a prothrombin mutation have a very high coagulation factor that promotes the development of thrombosis and embolism. The prothrombin mutation is to be regarded as a serious genetic defect, since it is often the trigger for heart attacks, apoplexy (strokes) and pulmonary embolisms.
Typical Symptoms & Signs
- blood clots faster
- Blood clots in the gut or veins
- embolism
- arm pain
- stomach pain
Diagnosis & History
The prothrombin mutation is diagnosed by means of a genetic test. This is often preceded by a so-called quick test (rapid test for blood clotting), which can be carried out in any general practitioner ‘s practice. If there is significantly increased blood coagulation, a genetic test is usually arranged.
Other important clues that suggest a prothrombin mutation include blood clots that occur in adolescents and thrombosis that occur in unusual places in the body, such as veins in the gastrointestinal tract, the eye or the brain. If there is a family component or if thrombosis or embolism occur very frequently, a genetic test for a prothrombin mutation should also be carried out here.
If a prothrombin mutation is present, the course depends on the treatment of the defect. The gene defect itself cannot be treated, but blood-thinning medication – so-called anticoagulants – can influence blood coagulation. It is important that those affected – especially women – are treated as early as possible.
Smoking, birth control pills and obesity promote thrombosis, so that the risk increases many times over, especially for these groups. Since this genetic defect is partly responsible for heart attacks and strokes, it is important that the prothrombin mutation is diagnosed and treated as early as possible.
Complications
Due to the prothrombin mutation, those affected suffer from impaired blood clotting. This works faster than in healthy people, so that clots can form in the veins or in the intestine. The prothrombin mutation can also cause pain in the arms or abdomen of the person affected.
Chronic pain is often accompanied by depression or other psychological upsets that significantly reduce the quality of life of those affected. Eye problems can also occur. Furthermore, the risk of thrombosis is also significantly increased by the prothrombin mutation, so that other risk factors should be eliminated. The treatment of the prothrombin mutation is usually carried out with the help of drugs. There are no particular complications and the symptoms are relatively well limited.
However, the affected person is dependent on lifelong therapy, since causal treatment of this disease is usually not possible. Furthermore, the patient is dependent on regular examinations. Life expectancy is not affected by timely and successful treatment. A healthy lifestyle can also limit the symptoms of the prothrombin mutation.
When should you go to the doctor?
In the case of the prothrombin mutation, a visit to a doctor is necessary in any case. This disease usually does not heal itself and the symptoms do not improve if no treatment is initiated. The person affected is always dependent on treatment for the prothrombin mutation in order to avoid further complications and symptoms.
A doctor should be consulted if the affected person’s blood clotting is significantly disturbed by the prothrombin mutation. This can lead to very rapid clotting, with clots also appearing in the veins or even in the intestines. The affected person also often suffers from anemia, which can lead to dizziness or discomfort. If these symptoms occur, consult a doctor immediately. Likewise, a doctor must be consulted when the patient suffers from severe pains in the arms or abdomen, these pains occur without any particular reason and significantly limit the patient’s life.
The prothrombin mutation can be diagnosed by a general practitioner . The treatment is usually carried out with the help of medication and can limit the symptoms. The life expectancy of those affected may be limited by the prothrombin mutation.
Treatment & Therapy
The prothrombin mutation cannot be treated causally. Medicine has not yet progressed so far that genetic defects can be successfully treated. Because of this, the consequences must be treated, i.e. the coagulation must be artificially reduced.
The most effective way to treat the prothrombin mutation is with drugs that have an anticoagulant effect. These are, for example , heparin, acetylsalicylic acid (ASA, also known as aspirin) or so-called coumarins. Among other things, these drugs inhibit the conversion of prothrombin into thrombin (heparin), reduce the formation of coagulation factors in the liver (coumarins) and prevent the blood platelets from clumping together (ASA).
Prevention
The prothrombin mutation cannot be prevented in the medical sense, since it is a hereditary disease or damage to the genetic material. To reduce the risk of thrombosis or embolism, the coagulation factor should always be monitored.
In addition, prophylactic anticoagulant medication should be taken. Nicotine and birth control pills should be avoided as supportive treatment for factor II mutations or as a prophylactic measure, as they significantly increase the risk of prothrombin mutations.
Aftercare
The prothrombin mutation (factor II mutation) is a change in genetic information and requires lifelong therapy to reduce the risk of thrombosis and embolism. There is no causal therapy for this disease. Drug treatment with anticoagulants (anticoagulants) such as heparin is recommended. This tries to avoid possible problems such as heart attacks, pulmonary embolisms or strokes.
Wearing compression stockings is also recommended, especially when sitting for long periods, such as when traveling by plane. Furthermore, a healthy diet in combination with sufficient physical activity helps to reduce the risk. Other approaches should include stopping addictive behaviors such as smoking.
After being diagnosed with a prothrombin mutation (factor II mutation), regular follow-up appointments should be made with the general practitioner. In a suspected case, a doctor should be consulted urgently. Talking to a gynecologist is important for women, since oral contraceptives such as the pill can increase the risk of thrombosis.
If a pregnancy is desired, this should be consulted with the doctor beforehand, since more checks are necessary here in order to reduce the risk of miscarriage. The prognosis for prothrombin mutation (factor II mutation) is relatively positive. Life expectancy is similar to that of a healthy person as far as the above points are taken into account.
You can do that yourself
Self-help with a prothrombin mutation consists mainly of improving the quality of life. First and foremost, it is necessary to carefully take the anticoagulants prescribed by the doctor. In order to prevent interactions, no additional medication may be taken without prior consultation with the doctor, including apparently harmless homeopathic preparations.
Those affected must have their coagulation factor checked regularly by their family doctor in order to be able to react to any changes and to prevent life-threatening complications such as pulmonary embolism or strokes. Female patients should seek advice from their gynecologist regarding further contraceptive planning, since taking the pill leads to an increased risk of thrombosis and must therefore not be continued.
A change in diet to a healthy and balanced diet, combined with regular exercise, supports any weight loss that may be necessary, relieves the strain on the cardiovascular system and ensures greater well-being. The additional avoidance of addictive substances such as nicotine also reduces the risk of blood clots.
If you feel dizzy or feel unwell, you must first and foremost always think about possible anemia and see a doctor immediately. The same applies to severe pain in the abdomen, legs or arms if this occurs for no apparent reason. If it is a clot, it can be treated early to prevent possible complications.
